Results 51 to 60 of about 102,609 (225)

Machine Learning Approaches in High Myopia: Systematic Review and Meta-Analysis

Journal of Medical Internet Research
BackgroundIn recent years, with the rapid development of machine learning (ML), it has gained widespread attention from researchers in clinical practice.
Huiyi Zuo, Baoyu Huang, Jian He, Liying Fang, Minli Huang   +4 more
doaj   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Anti-VEGF treatment for myopic choroid neovascularization: from molecular characterization to update on clinical application

Drug Design, Development and Therapy, 2015
Yan Zhang,1 Qian Han,2 Yusha Ru,1 Qiyu Bo,1 Rui Hua Wei1 1Tianjin Medical University Eye Hospital, Tianjin Medical University Eye Institute, College of Optometry and Ophthalmology, Tianjin Medical University, Tianjin, 2Tangshan Eye Hospital, Tangshan ...
Zhang Y, Han Q, Ru Y, Bo Q, Wei RH
doaj  

Education-Related Parameters in High Myopia: Adults versus School Children. [PDF]

PLoS ONE, 2016
PURPOSE:Since high myopia in the younger generation may differ etiologically from high myopia in older generations, we examined whether education-related parameters differ between high myopia in today´s school children and high pathological myopia in ...
Jost B Jonas, Liang Xu, Ya Xing Wang, Hong Sheng Bi, Jian Feng Wu, Wen Jun Jiang, Vinay Nangia, Ajit Sinha, Dan Zhu, Yong Tao, Yin Guo, Qi Sheng You, Li Juan Wu, Li Xin Tao, Xiu Hua Guo, Kyoko Ohno-Matsui, Songhomitra Panda-Jonas   +16 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Diagnosing pathologic myopia by identifying morphologic patterns using ultra widefield images with deep learning

npj Digital Medicine
Pathologic myopia is a leading cause of visual impairment and blindness. While deep learning-based approaches aid in recognizing pathologic myopia using color fundus photography, they often rely on implicit patterns that lack clinical interpretability ...
Yang Liu, Keming Zhao, Lihui Luo, Ziheng Zhang, Zhenghang Qian, Cenk Jiang, Zhicheng Du, Simin Deng, Chengming Yang, Duanpo Wu, Shuai Wang, Xingru Huang, Chenggang Yan, Yingting Zhu, Yehong Zhuo, Chunsheng Qu, Jiaqi Chen, Zhenqiang Huang, Chenying Lu, Minjiang Chen, Dongmei Yu, Jiantao Wang, Peiwu Qin, Jiansong Ji   +23 more
doaj   +1 more source

Comparative analysis of TP53 gene in Tupaia belangeri subspecies (Tupaia belangeri yaoshanensis vs. Tupaia belangeri chinensis) and identification of mutations in spontaneous tumor cases

Animal Models and Experimental Medicine, EarlyView.
This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao, Haibo Tang, Liang Liang, Jing Leng, Weijian Huang   +4 more
wiley   +1 more source

The 9+ month marathon: How pregnancy may have shaped human endurance capacities

The Anatomical Record, EarlyView.
Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley   +1 more source

Selective retinal neuron loss and impaired neurovascular support underlie myopic retinopathy in RPE-specific Lrp2-deficient mice

Frontiers in Cellular Neuroscience
Pathologic myopia is a major cause of irreversible visual impairment worldwide and is characterized by excessive axial elongation accompanied by progressive retinal degeneration.
Jinyan Qi, Jinyan Qi, Xuexue Cui, Caijiao Yi, Jian Liu, Jian Liu, Wen Deng, Xiang-Ling Yuan, Xiang-Ling Yuan, Yuanyuan Hu, Yuanyuan Hu, Tong Wang, Heping Xu, Heping Xu   +13 more
doaj   +1 more source